GABRQ gamma-aminobutyric acid type A receptor subunit theta [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRQprovided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit thetaprovided by HGNC
Primary source: HGNC:HGNC:14454
See related: Ensembl:ENSG00000268089 MIM:300349; AllianceGenome:HGNC:14454
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: THETA
Summary: The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. [provided by RefSeq, Jul 2017]
Expression: Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.9) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (152637895..152658965)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (150904491..150933803)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (151806349..151826007)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons.
Title: The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons.
A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands.
Title: A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands.
The intracellular domain of GABRQ disrupts GABRB3 homomeric plasma membrane expression.
Title: Anterograde trafficking signals in GABA(A) subunits are required for functional expression.
data from the present study suggest a possible role of GABRQ rs3810651 single nucleotide polymorphism in the modification of the age at onset of migraine in the Caucasian Spanish people
Title: Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.
We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3.this is the first report of ASD patients with truncating mutations in GABA receptors genes.
Title: Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
GABRQ plays important roles in hepatocellular carcinoma development and progression
Title: GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit.
single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.
Title: Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
Although GABRQ genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility
Title: Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study of 182 candidate genes in anorexia nervosa.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GABRQ_322 (e-PCR)
- UniSTS:280688

B342YE5 (e-PCR)
- UniSTS:78237

RH106546 (e-PCR)
- UniSTS:209621

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables neurotransmitter transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit theta

Names: GABA(A) receptor subunit theta; GABAAR subunit theta; gamma-aminobutyric acid (GABA) A receptor, theta; gamma-aminobutyric acid type A receptor theta subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015965.2 RefSeqGene

Range

5001..20180

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018558.4 → NP_061028.3 gamma-aminobutyric acid receptor subunit theta precursor

See identical proteins and their annotated locations for NP_061028.3

Status: REVIEWED

Source sequence(s)

AC244102, AF189259

Consensus CDS

CCDS14707.1

UniProtKB/Swiss-Prot

A6NFN1, Q32MB4, Q9NZK8, Q9UN88

Related

ENSP00000469332.1, ENST00000598523.3

Conserved Domains (1) summary

cl27321
Location:60 → 353

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

152637895..152658965

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531184.4 → XP_011529486.1 gamma-aminobutyric acid receptor subunit theta isoform X1

Conserved Domains (2) summary

pfam02931
Location:60 → 265

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:272 → 354

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region